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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Voiding Cystourethrography (VCUG) and Cystography are specialized radiographic procedures used to examine the structure and function of the bladder and urethra.Voiding Cystourethrography (VCUG)A Voiding Cystourethrogram (VCUG) is a diagnostic imaging procedure that assesses the anatomy and function of the lower urinary tract. It focuses on the bladder, bladder neck, and urethra, helping detect abnormalities such as vesicoureteral reflux (VUR)—the backward or reverse flow of urine into the...
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Related Experiment Video

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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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DNA copy number variations in patients with persistent cloaca.

Steven M Harrison1, Casey Seideman1, Linda A Baker2

  • 1Department of Urology, University of Texas Southwestern Medical Center, Dallas, Texas.

The Journal of Urology
|April 1, 2014
PubMed
Summary

Copy number variations are common in females with persistent cloaca, a rare birth defect. Further research into these genomic rearrangements may uncover the genetic causes of this condition.

Keywords:
DNA copy number variationscloacafemalegenitaliagenomeurinary bladder

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Surgery

Background:

  • Persistent cloaca is a severe congenital anomaly in females, often leading to significant health issues including renal failure and incontinence.
  • Murine models suggest a potential genetic basis for persistent cloaca in humans.
  • Genomic copy number variations (CNVs) are increasingly recognized as a cause of unexplained genetic disorders.

Purpose of the Study:

  • To investigate the presence of novel copy number variations in patients diagnosed with persistent cloaca.
  • To identify potential genetic contributors to the development of persistent cloaca.

Main Methods:

  • Retrospective chart review of patients with persistent cloaca.
  • Whole genome array comparative genomic hybridization (aCGH) on lymphocyte DNA.
  • Sanger sequencing of the HHAT gene.

Main Results:

  • Seventeen female patients with persistent cloaca were studied, with a mean age of 12 years.
  • Forty-one percent of patients (7/17) exhibited copy number variations, including 5 gains and 2 losses.
  • Two novel CNVs were identified: a duplication on 16p13.2 and a deletion on 1q32.1q32.3. No causal mutations were found in the HHAT gene.

Conclusions:

  • Copy number variations are frequently observed in females with persistent cloaca.
  • While HHAT gene mutations are not common, further investigation of identified genomic rearrangements is warranted.
  • Understanding these genomic alterations may help elucidate the genetic etiology of persistent cloaca.